Results 171 to 180 of about 466,251 (333)
Genetic study of psoriasis highlights its close link with socio-economic status and affective symptoms [PDF]
, 2023 Anni Heikkilä +12 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective This study aims to identify both fluid and neuroimaging biomarkers for CSF1R‐RD that can inform the optimal timing of treatment administration to maximize therapeutic benefit, while also providing sensitive quantitative measurements to monitor disease progression.
Tomasz Chmiela +13 more
wiley +1 more source
Annals of Agricultural and Environmental Medicine, 2014 [b]objective[/b]. The aim of the research was an assessment of the differences in the self-evaluation of health-related quality of life during the treatment of post-burn scars on the upper limbs of pre-school and school children.
Anna Chrapusta, Maria Pąchalska
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Cholinesterase inhibitors and affective symptoms
Middle East Current Psychiatry, 2017 Mahreen Faisal +2 more
openaire +1 more source
The Case of a 28‐Year‐Old Woman With Medically Refractory Focal Epilepsy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present the case of a 28‐year‐old right‐handed woman with medically refractory focal epilepsy. Her seizure semiology and electroencephalography (EEG) indicated a seizure onset zone in the right central‐parietal area. However, both MRI and PET scans were unremarkable, showing no focal lesions or areas of altered metabolism.
Rishi Sharma +5 more
wiley +1 more source
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Prediction of Somatization Disorder on the Basis of Personality Traits and Alexithymia
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Qum, 2015 Background and Objectives: Somatization is a somatoform disorder, which medical examinations are not able to explain its reason. This study was conducted with the purpose of clarifying the role of personal traits and alexithymia in somatization disorder.
Karim Abdolmohammadi +2 more
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